Canonical Allele Identifier: CA7091833

Gene: CHD8

Linked Data

• ClinVar Variation Id: 2909677
• ClinVar RCV Id: RCV003732380
• dbSNP Id: rs201623364
• ExAC: 14:21897172 C / T
• gnomAD v2: 14-21897172-C-T
• gnomAD v3: 14-21429013-C-T
• gnomAD v4: 14-21429013-C-T
• MyVariant Identifiers: chr14:g.21897172C>T (hg19) ; chr14:g.21429013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429013C>T , CM000676.2:g.21429013C>T	GRCh38
NC_000014.8:g.21897172C>T , CM000676.1:g.21897172C>T	GRCh37
NC_000014.7:g.20967012C>T	NCBI36
NG_021249.1:g.13286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.329G>A	ENSP00000406288.3:p.Ser110Asn
ENST00000553651.2:n.2972G>A
ENST00000555962.6:c.-111+2798G>A	ENSP00000495174.1:n.-111+2798G>A
ENST00000557364.6:c.1166G>A	ENSP00000451601.1:p.Ser389Asn
ENST00000642518.1:c.329G>A	ENSP00000496722.1:p.Ser110Asn
ENST00000643048.1:n.1461G>A
ENST00000643469.1:c.1166G>A	ENSP00000495070.1:p.Ser389Asn
ENST00000645140.1:c.1078G>A
ENST00000645929.1:c.329G>A	ENSP00000494402.1:p.Ser110Asn
ENST00000646063.1:c.1253G>A	ENSP00000496565.1:p.Ser418Asn
ENST00000646340.1:c.1172G>A	ENSP00000496730.1:p.Ser391Asn
ENST00000646647.2:c.1166G>A MANE Select	ENSP00000495240.1:p.Ser389Asn
ENST00000399982.6:c.1166G>A	ENSP00000382863.2:p.Ser389Asn
ENST00000430710.7:c.329G>A	ENSP00000406288.3:p.Ser110Asn
ENST00000555962.5:n.150+2798G>A
ENST00000557364.5:c.1166G>A	ENSP00000451601.1:p.Ser389Asn
NM_001170629.1:c.1166G>A	NP_001164100.1:p.Ser389Asn
NM_020920.3:c.329G>A	NP_065971.2:p.Ser110Asn
NM_001170629.2:c.1166G>A MANE Select	NP_001164100.1:p.Ser389Asn
NM_020920.4:c.329G>A	NP_065971.2:p.Ser110Asn